Marine environment microfiber contamination: Global patterns and the diversity of microparticle origins
Barrows, A.P.W., Cathey, S.E., Petersen, C.W.
Published in Environmental pollution (1987) (01.06.2018)
Published in Environmental pollution (1987) (01.06.2018)
Get full text
Journal Article
Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands
Cathey, S S, Leroy, J G, Wood, T, Eaves, K, Simensen, R J, Kudo, M, Stevenson, R E, Friez, M J
Published in Journal of medical genetics (01.01.2010)
Published in Journal of medical genetics (01.01.2010)
Get full text
Journal Article
Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders
Mochel, Fanny, Rastetter, Agnès, Ceulemans, Berten, Platzer, Konrad, Yang, Sandra, Shinde, Deepali N, Helbig, Katherine L, Lopergolo, Diego, Mari, Francesca, Renieri, Alessandra, Benetti, Elisa, Canitano, Roberto, Waisfisz, Quinten, Plomp, Astrid S, Huisman, Sylvia A, Wilson, Golder N, Cathey, Sara S, Louie, Raymond J, Gaudio, Daniela Del, Waggoner, Darrel, Kacker, Shawn, Nugent, Kimberly M, Roeder, Elizabeth R, Bruel, Ange-Line, Thevenon, Julien, Ehmke, Nadja, Horn, Denise, Holtgrewe, Manuel, Kaiser, Frank J, Kamphausen, Susanne B, Abou Jamra, Rami, Weckhuysen, Sarah, Dalle, Carine, Depienne, Christel
Published in Brain (London, England : 1878) (01.12.2020)
Published in Brain (London, England : 1878) (01.12.2020)
Get full text
Journal Article
Consumptive water use and crop coefficients for warm-season turfgrass species in the Southeastern United States
Wherley, B., Dukes, M.D., Cathey, S., Miller, G., Sinclair, T.
Published in Agricultural water management (01.07.2015)
Published in Agricultural water management (01.07.2015)
Get full text
Journal Article
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome
Bend, Eric G, Aref-Eshghi, Erfan, Everman, David B, Rogers, R Curtis, Cathey, Sara S, Prijoles, Eloise J, Lyons, Michael J, Davis, Heather, Clarkson, Katie, Gripp, Karen W, Li, Dong, Bhoj, Elizabeth, Zackai, Elaine, Mark, Paul, Hakonarson, Hakon, Demmer, Laurie A, Levy, Michael A, Kerkhof, Jennifer, Stuart, Alan, Rodenhiser, David, Friez, Michael J, Stevenson, Roger E, Schwartz, Charles E, Sadikovic, Bekim
Published in Clinical epigenetics (27.04.2019)
Published in Clinical epigenetics (27.04.2019)
Get full text
Journal Article
The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases
Naumchik, Brianna M, Gupta, Ashish, Flanagan-Steet, Heather, Steet, Richard A, Cathey, Sara S, Orchard, Paul J, Lund, Troy C
Published in Cells (Basel, Switzerland) (05.06.2020)
Published in Cells (Basel, Switzerland) (05.06.2020)
Get full text
Journal Article
Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?
Spellicy, Catherine J, Peng, Yunhui, Olewiler, Leah, Cathey, Sara S, Rogers, R Curtis, Bartholomew, Dennis, Johnson, Jacob, Alexov, Emil, Lee, Jennifer A, Friez, Michael J, Jones, Julie R
Published in Journal of human genetics (01.06.2019)
Published in Journal of human genetics (01.06.2019)
Get full text
Journal Article
Intellectual functioning in alpha‐mannosidosis
Cathey, Sara S., Sarasua, Sara M., Simensen, Richard, Pietris, Katie, Kimbrell, Gordon, Sillence, David, Wilson, Callum, Horowitz, Lucia
Published in JIMD reports (01.11.2019)
Published in JIMD reports (01.11.2019)
Get full text
Journal Article
BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells
Lessel, Davor, Gehbauer, Christina, Bramswig, Nuria C, Schluth-Bolard, Caroline, Venkataramanappa, Sathish, van Gassen, Koen L I, Hempel, Maja, Haack, Tobias B, Baresic, Anja, Genetti, Casie A, Funari, Mariana F A, Lessel, Ivana, Kuhlmann, Leonie, Simon, Ruth, Liu, Pentao, Denecke, Jonas, Kuechler, Alma, de Kruijff, Ineke, Shoukier, Moneef, Lek, Monkol, Mullen, Thomas, Lüdecke, Hermann-Josef, Lerario, Antonio M, Kobbe, Robin, Krieger, Thorsten, Demeer, Benedicte, Lebrun, Marine, Keren, Boris, Nava, Caroline, Buratti, Julien, Afenjar, Alexandra, Shinawi, Marwan, Guillen Sacoto, Maria J, Gauthier, Julie, Hamdan, Fadi F, Laberge, Anne-Marie, Campeau, Philippe M, Louie, Raymond J, Cathey, Sara S, Prinz, Immo, Jorge, Alexander A L, Terhal, Paulien A, Lenhard, Boris, Wieczorek, Dagmar, Strom, Tim M, Agrawal, Pankaj B, Britsch, Stefan, Tolosa, Eva, Kubisch, Christian
Published in Brain (London, England : 1878) (01.08.2018)
Published in Brain (London, England : 1878) (01.08.2018)
Get full text
Journal Article
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations
Velho, Renata Voltolini, Harms, Frederike L., Danyukova, Tatyana, Ludwig, Nataniel F., Friez, Michael J., Cathey, Sara S., Filocamo, Mirella, Tappino, Barbara, Güneş, Nilay, Tüysüz, Beyhan, Tylee, Karen L., Brammeier, Kathryn L., Heptinstall, Lesley, Oussoren, Esmee, Ploeg, Ans T., Petersen, Christine, Alves, Sandra, Saavedra, Gloria Durán, Schwartz, Ida V., Muschol, Nicole, Kutsche, Kerstin, Pohl, Sandra
Published in Human mutation (01.07.2019)
Published in Human mutation (01.07.2019)
Get full text
Journal Article
Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study
Guffon, Nathalie, Burton, Barbara K., Ficicioglu, Can, Magner, Martin, Gil-Campos, Mercedes, Lopez-Rodriguez, Monica A., Jayakar, Parul, Lund, Allan M., Tal, Galit, Garcia-Ortiz, Jose Elias, Stepien, Karolina M., Ellaway, Carolyn, Al-Hertani, Walla, Giugliani, Roberto, Cathey, Sara S., Hennermann, Julia B., Lampe, Christina, McNutt, Markey, Lagler, Florian B., Scarpa, Maurizio, Sutton, V. Reid, Muschol, Nicole
Published in Molecular genetics and metabolism (01.08.2024)
Published in Molecular genetics and metabolism (01.08.2024)
Get full text
Journal Article
Scalp-Ear-Nipple syndrome: first report of a Potassium channel tetramerization domain-containing 1 in-frame insertion and review of the literature
Butler, Kameryn M, Bahrambeigi, Vahid, Merrihew, Allie, Friez, Michael J, Cathey, Sara S
Published in Clinical dysmorphology (01.10.2021)
Published in Clinical dysmorphology (01.10.2021)
Get more information
Journal Article
The Dynamics of Long-Term Business-to-Business Exchange Relationships
Dabholkar, Pratibha A, Johnston, Wesley J, Cathey, Amy S
Published in Journal of the Academy of Marketing Science (01.03.1994)
Published in Journal of the Academy of Marketing Science (01.03.1994)
Get full text
Journal Article
Phacomatosis Pigmentokeratotica: A Mosaic RASopathy with Malignant Potential
Om, Amit, Cathey, Sara S., Gathings, Robert M., Hudspeth, Michelle, Lee, Jennifer A., Marzolf, Sean, Wine Lee, Lara
Published in Pediatric dermatology (01.05.2017)
Published in Pediatric dermatology (01.05.2017)
Get full text
Journal Article
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature
Torti, Erin, Keren, Boris, Palmer, Elizabeth E., Zhu, Zehua, Afenjar, Alexandra, Anderson, Ilse. J., Andrews, Marisa V., Atkinson, Celia, Au, Margaret, Berry, Susan A., Bowling, Kevin M., Boyle, Jackie, Buratti, Julien, Cathey, Sara S., Charles, Perrine, Cogne, Benjamin, Courtin, Thomas, Escobar, Luis F., Finley, Sabra Ledare, Graham, John M., Grange, Dorothy K., Heron, Delphine, Hewson, Stacy, Hiatt, Susan M., Hibbs, Kathleen A., Jayakar, Parul, Kalsner, Louisa, Larcher, Lise, Lesca, Gaetan, Mark, Paul R., Miller, Kathryn, Nava, Caroline, Nizon, Mathilde, Pai, G. Shashidhar, Pappas, John, Parsons, Gretchen, Payne, Katelyn, Putoux, Audrey, Rabin, Rachel, Sabatier, Isabelle, Shinawi, Marwan, Shur, Natasha, Skinner, Steven A., Valence, Stephanie, Warren, Hannah, Whalen, Sandra, Crunk, Amy, Douglas, Ganka, Monaghan, Kristin G., Person, Richard E., Willaert, Rebecca, Solomon, Benjamin D., Juusola, Jane
Published in Genetics in medicine (01.09.2019)
Published in Genetics in medicine (01.09.2019)
Get full text
Journal Article
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
Bryant, Laura, Li, Dong, Cox, Samuel G, Marchione, Dylan, Joiner, Evan F, Wilson, Khadija, Janssen, Kevin, Lee, Pearl, March, Michael E, Nair, Divya, Sherr, Elliott, Fregeau, Brieana, Wierenga, Klaas J, Wadley, Alexandrea, Mancini, Grazia M S, Powell-Hamilton, Nina, van de Kamp, Jiddeke, Grebe, Theresa, Dean, John, Ross, Alison, Crawford, Heather P, Powis, Zoe, Cho, Megan T, Willing, Marcia C, Manwaring, Linda, Schot, Rachel, Nava, Caroline, Afenjar, Alexandra, Lessel, Davor, Wagner, Matias, Klopstock, Thomas, Winkelmann, Juliane, Catarino, Claudia B, Retterer, Kyle, Schuette, Jane L, Innis, Jeffrey W, Pizzino, Amy, Lüttgen, Sabine, Denecke, Jonas, Strom, Tim M, Monaghan, Kristin G, Yuan, Zuo-Fei, Dubbs, Holly, Bend, Renee, Lee, Jennifer A, Lyons, Michael J, Hoefele, Julia, Günthner, Roman, Reutter, Heiko, Keren, Boris, Radtke, Kelly, Sherbini, Omar, Mrokse, Cameron, Helbig, Katherine L, Odent, Sylvie, Cogne, Benjamin, Mercier, Sandra, Bezieau, Stephane, Besnard, Thomas, Kury, Sebastien, Redon, Richard, Reinson, Karit, Wojcik, Monica H, Õunap, Katrin, Ilves, Pilvi, Innes, A Micheil, Kernohan, Kristin D, Costain, Gregory, Meyn, M Stephen, Chitayat, David, Zackai, Elaine, Lehman, Anna, Kitson, Hilary, Martin, Martin G, Martinez-Agosto, Julian A, Nelson, Stan F, Palmer, Christina G S, Papp, Jeanette C, Parker, Neil H, Sinsheimer, Janet S, Vilain, Eric, Wan, Jijun, Yoon, Amanda J, Zheng, Allison, Brimble, Elise, Ferrero, Giovanni Battista, Radio, Francesca Clementina, Carli, Diana, Barresi, Sabina, Brusco, Alfredo, Tartaglia, Marco, Thomas, Jennifer Muncy, Umana, Luis, Weiss, Marjan M, Gotway, Garrett, Stuurman, K E, Thompson, Michelle L, McWalter, Kirsty, Stumpel, Constance T R M, Stevens, Servi J C
Published in Science advances (01.12.2020)
Published in Science advances (01.12.2020)
Get full text
Journal Article
A novel intermediate mucolipidosis II/III alpha beta caused by GNPTAB mutation in the cytosolic N-terminal domain
Leroy, Jules G, Sillence, David, Wood, Tim, Barnes, Jarrod, Lebel, Robert Roger, Friez, Michael J, Stevenson, Roger E, Steet, Richard, Cathey, Sara S
Published in European journal of human genetics : EJHG (01.05.2014)
Published in European journal of human genetics : EJHG (01.05.2014)
Get full text
Journal Article